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- W2318076276 abstract "Regulated interactions between immune cells facilitate the generation of successful immune responses, thereby enabling efficient neutralisation and clearance of pathogens, and the establishment of both cell and humoral-mediated immunological memory. The corollary of this is that impediments to efficient cell-cell interactions compromise the differentiation and effector function of immune cells, underlying the clinical features of, and disease pathogenesis in, primary immunodeficiencies (PID). These defects manifest as impaired long-term humoral immunity and susceptibility to infection with specific pathogens in affected individuals. We have been studying lymphocyte development, differentiation and effector function in individuals with defined loss-of-function mutations that result in specific PIDs, such as autosomal dominant and autosomal recessive hyper-IgE syndrome, X-linked and autosomal recessive severe combined immunodeficiency, and X-linked lymphoproliferative disease. This has provided an opportunity to ascribe lineage-specific functions to a variety of genes and to identify defects in lymphocyte biology caused by these mutations. Most importantly, however, these studies have provided mechanistic explanations for the clinical features of several of these conditions, thereby identifying molecules and pathways that could be targeted for intervention to improve immune function in different disease settings." @default.
- W2318076276 created "2016-06-24" @default.
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- W2318076276 date "2012-01-01" @default.
- W2318076276 modified "2023-09-23" @default.
- W2318076276 title "Defects in lymphocyte function and interactions in primary immunodeficiencies: insights into disease pathogenesis" @default.
- W2318076276 doi "https://doi.org/10.1016/s0031-3025(16)32689-7" @default.
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